A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18005587



Internal ID20572628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9112275..9112924hg38UCSC Ensembl
chr12:9264871..9265520hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38650
hg19650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459518
Supporting Variants
Samples
Known GenesA2M
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18005587
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00045


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer